Zak Kohane

Isaac Kohane, MD, PhD

Chair of the Department of Biomedical Informatics, Harvard Medical School
Marion V. Nelson Professor of Biomedical Informatics, Harvard Medical School
Professor of Pediatrics, Boston Children's Hospital

10 Shattuck Street, Boston, MA 02115

Isaac (Zak) Kohane, MD, PhD is the inaugural Chair of the Department of Biomedical Informatics and the Marion V. Nelson Professor of Biomedical Informatics at Harvard Medical School. He served as co-author of the Institute of Medicine Report on Precision Medicine that has been the template for national efforts. He develops and applies computational techniques to address disease at multiple scales: from whole healthcare systems as “living laboratories” to the functional genomics of neurodevelopment with a focus on autism.

Over the last 30 years, Kohane’s research agenda has been driven by the vision of what biomedical researchers could do to find new cures, provide new diagnoses and deliver the best care available if data could be converted more rapidly to knowledge and knowledge to practice. In so doing, he has designed and led multiple internationally adopted efforts to “instrument” the healthcare enterprise for discovery and to enable innovative decision-making tools to be applied to the point of care. At the same time, the new insights afforded by ’omic-scale molecular analyses have inspired him and his collaborators to work on re-characterizing and reclassifying diseases such as autism, rheumatoid arthritis and cancers. In many of these studies, the developmental trajectories of thousands of genes have been a powerful tool in unraveling complex diseases.

In 1987, Kohane earned his MD/PhD from Boston University and then completed his post-doctoral work at Boston Children’s Hospital, where he has since worked as a pediatric endocrinologist. He joined the faculty at Harvard Medical School in 1992, serving as Director of Countway Library from 2005 to 2015 and as Co-Director of the Center for Biomedical Informatics during the same period, before it became the Department of Biomedical Informatics in July 2015. He is a member of the Institute of Medicine and the American Society for Clinical Investigation. Kohane has published several hundred papers in the medical literature and authored the widely-used books Microarrays for an Integrative Genomics (2003) and The AI Revolution in Medicine: GPT-4 and Beyond (2023). He is also Editor-in-Chief of NEJM AI.

Kohane is always on the lookout for like-minded “quants” who share the same goals to bring a better future for medicine and biomedical science to the present.

Current Postdoctoral Fellowship Opportunities
DBMI Research Areas
DBMI Courses
Disease progression strikingly differs in research and real-world Parkinson's populations.
Authors: Beaulieu-Jones BK, Frau F, Bozzi S, Chandross KJ, Peterschmitt MJ, Cohen C, Coulovrat C, Kumar D, Kruger MJ, Lipnick SL, Fitzsimmons L, Kohane IS, Scherzer CR.
NPJ Parkinsons Dis
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De novo variants in DENND5B cause a neurodevelopmental disorder.
Authors: Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P.
Am J Hum Genet
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To do no harm - and the most good - with AI in health care.
Authors: Goldberg CB, Adams L, Blumenthal D, Brennan PF, Brown N, Butte AJ, Cheatham M, deBronkart D, Dixon J, Drazen J, Evans BJ, Hoffman SM, Holmes C, Lee P, Manrai AK, Omenn GS, Perlin JB, Ramoni R, Sapiro G, Sarkar R, Sood H, Vayena E, Kohane IS.
Nat Med
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Authors: Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR, Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG.
Ann Clin Transl Neurol
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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.
Authors: Pucel J, Briere LC, Reuter C, Gochyyev P.
Genet Med
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The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Authors: Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA.
Commun Biol
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Disease progression strikingly differs in research and real-world Parkinson's populations.
Authors: Beaulieu-Jones BK, Frau F, Bozzi S, Chandross KJ, Peterschmitt MJ, Cohen C, Coulovrat C, Kumar D, Kruger MJ, Lipnick SL, Fitzsimmons L, Kohane IS, Scherzer CR.
medRxiv
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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
Authors: Nadimpalli Kobren S, Moldovan MA, Reimers R, Traviglia D, Li X, Barnum D, Veit A, Willett J, Berselli M, Ronchetti W, Sherwood R, Krier J, Kohane IS, Sunyaev SR.
bioRxiv
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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Authors: Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W.
Genet Med
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LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.
Authors: Lu J, Toro C, Adams DR.
BMC Genomics
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